RET — 3962 ClinVar variants

All ClinVar germline RET variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1950 flagged for review →

95 Pathogenic · 19 Pathogenic/Likely pathogenic · 63 Likely pathogenic · 406 Conflicting · 74 Benign · 183 Benign/Likely benign · 1134 Likely benign · 1988 Uncertain significance

Full RET gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1950

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 9

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

RET p.Arg77Cys Pathogenic/Likely pathogenic Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg897Gln Pathogenic Multiple submitters
RET-related disorder
RET p.Asp631Tyr Pathogenic Multiple submitters
hereditary neoplastic syndrome
RET p.Lys666Glu Pathogenic/Likely pathogenic Multiple submitters
pheochromocytoma
RET p.Ser32Leu Likely pathogenic Multiple submitters
RET-related disorder
RET p.Ser891Ala Pathogenic Multiple submitters
medullary thyroid gland carcinoma
RET p.Pro273His Likely pathogenic Single submitter
ovarian cancer
RET p.Ala640Gly Pathogenic No assertion criteria
multiple endocrine neoplasia type 2A
RET p.Val202Leu Likely pathogenic No assertion criteria
Hirschsprung disease

Predictors agree, ClinVar conflicts 208

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 208

RET p.Ala1020Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala1051Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala1105Val Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Ala156Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala203Thr Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Ala217Asp Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala217Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala228Pro Conflicting Single submitter
pheochromocytoma
RET p.Ala247Val Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Ala325Thr Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala386Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala472Thr Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala498Val Conflicting Single submitter
pheochromocytoma
RET p.Ala510Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala513Gly Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala513Val Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Ala59Thr Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Ala59Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala639Thr Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ala680Thr Conflicting Single submitter
pheochromocytoma
RET p.Arg1050Gln Conflicting Single submitter
multiple endocrine neoplasia type 2B
RET p.Arg112Cys Conflicting Single submitter
multiple endocrine neoplasia
RET p.Arg112His Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Arg133His Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Arg144His Conflicting Single submitter
pheochromocytoma
RET p.Arg163Gln Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Arg175Gly Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Arg177Gln Conflicting Single submitter
multiple endocrine neoplasia type 2B
RET p.Arg180Gln Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Arg189His Conflicting Single submitter
pheochromocytoma
RET p.Arg215Cys Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Arg234Gln Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Arg250Leu Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Arg297His Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Arg330Gln Conflicting Single submitter
familial medullary thyroid carcinoma
RET p.Arg368His Conflicting Single submitter
familial medullary thyroid carcinoma
RET p.Arg417Cys Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Arg417His Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Arg418Gln Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Arg474Gln Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Arg474Trp Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Arg475Gln Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Arg525Gln Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Arg525Trp Conflicting Single submitter
RET-related disorder
RET p.Arg57Gln Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Arg600Trp Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Arg677Gln Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Arg694Gln Conflicting Single submitter
pheochromocytoma
RET p.Arg694Trp Conflicting Single submitter
RET-related disorder
RET p.Arg77His Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Arg79Gln Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Arg79Trp Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Arg833His Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Arg969Gln Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Arg982Cys Conflicting Single submitter
familial medullary thyroid carcinoma
RET p.Arg982His Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Arg982Ser Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Arg99Gln Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Asn151Ser Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Asn359Ser Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Asn361Lys Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Asn429Asp Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Asn448Lys Conflicting Single submitter
pheochromocytoma
RET p.Asn448Ser Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Asn610His Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Asp102Asn Conflicting Single submitter
RET-related disorder
RET p.Asp34Asn Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Asp380Asn Conflicting Single submitter
multiple endocrine neoplasia type 2B
RET p.Asp489Glu Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Asp567Asn Conflicting Single submitter
multiple endocrine neoplasia
RET p.Asp631Asn Conflicting Single submitter
pheochromocytoma
RET p.Cys531Arg Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Gln326Arg Conflicting Single submitter
multiple endocrine neoplasia type 2B
RET p.Gln490Arg Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Gln490Glu Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Gln681Glu Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Gln89Lys Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Glu136Lys Conflicting Single submitter
multiple endocrine neoplasia type 2B
RET p.Glu210Lys Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Glu238Gln Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Glu459Lys Conflicting Single submitter
multiple endocrine neoplasia type 2B
RET p.Glu480Lys Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Glu511Lys Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Glu616Lys Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Glu623Lys Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Glu632Lys Conflicting Single submitter
familial medullary thyroid carcinoma
RET p.Glu734Lys Conflicting Single submitter
RET-related disorder
RET p.Glu843Lys Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Glu867Asp Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Gly1032Ser Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Gly1086Arg Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Gly248Ser Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Gly28Ser Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Gly321Arg Conflicting Single submitter
RET-related disorder
RET p.Gly446Ser Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Gly47Ser Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Gly548Ser Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Gly550Glu Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Gly568Ser Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Gly691Ser Conflicting Single submitter
prostate neoplasm
RET p.Gly733Asp Conflicting Single submitter
RET-related disorder
RET p.Gly74Ser Conflicting Single submitter
multiple endocrine neoplasia type 2B
RET p.Gly830Arg Conflicting Single submitter
multiple endocrine neoplasia type 2B
RET p.Gly831Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.His103Arg Conflicting Single submitter
pheochromocytoma
RET p.His103Tyr Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.His246Asn Conflicting Single submitter
pheochromocytoma
RET p.His246Asp Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.His443Tyr Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.His482Arg Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.His745Arg Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.His968Tyr Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Ile364Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ile436Val Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Ile669Val Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Ile920Val Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Leu1018Phe Conflicting Single submitter
multiple endocrine neoplasia
RET p.Leu1048Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Leu11Met Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Leu132Ile Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Leu362Ile Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Leu375Gln Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Leu389Phe Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Leu410Phe Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Leu452Ile Conflicting Single submitter
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
RET p.Leu481Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Leu501Phe Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Leu56Met Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Leu633Val Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Leu712Pro Conflicting Single submitter
Hirschsprung disease, susceptibility to, 1
RET p.Leu827Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Lys108Gln Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Lys424Arg Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Lys789Glu Conflicting Single submitter
multiple endocrine neoplasia type 2B
RET p.Met1109Thr Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Met370Thr Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Met484Thr Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Met484Val Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Pro1067Ser Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Pro182Ser Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Pro320Ser Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Pro384Ala Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Pro537Leu Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Pro60Ser Conflicting Single submitter
multiple endocrine neoplasia type 2A
RET p.Ser1102Pro Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ser131Pro Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ser153Thr Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ser173Pro Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Ser201Thr Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Ser339Leu Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

RET c.2136+2T>G Conflicting Single submitter
hereditary neoplastic syndrome
RET c.3040-2A>G Conflicting Single submitter
multiple endocrine neoplasia type 2
RET p.Arg1050Ter Conflicting Single submitter
hereditary neoplastic syndrome
RET p.Val1075fs Conflicting Single submitter
multiple endocrine neoplasia type 2

Predictors lean, ClinVar uncertain 1259

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1259

RET p.Ala1019Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala1046Asp Uncertain significance Multiple submitters
familial medullary thyroid carcinoma
RET p.Ala1046Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala1106Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala1106Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala143Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.Ala228Asp Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala228Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala228Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala247Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala247Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala249Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala249Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala26Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala26Thr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala26Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala274Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala279Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala281Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala2Glu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala306Pro Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala306Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala349Gly Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Ala349Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala35Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala373Glu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala420Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala420Thr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala432Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala432Thr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala432Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala447Asp Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala45Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala45Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.Ala496Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala496Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala510Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala55Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala639Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala641Pro Uncertain significance Multiple submitters
familial medullary thyroid carcinoma
RET p.Ala654Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala664Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala664Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala680Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala680Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala682Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala692Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala750Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala756Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala807Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala807Thr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala807Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala845Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala845Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala877Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala883Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala883Pro Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala999Gly Uncertain significance Multiple submitters
RET-related disorder
RET p.Ala999Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala999Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2B
RET p.Arg1012Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg1089Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg112Leu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg12Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg133Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg133Pro Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg163Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg175His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg177Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg177Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg189Cys Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Arg189Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg189Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg205Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg205Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg215His Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg226Leu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg226Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg297Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg355Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg355Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg368Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg417Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg418Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg418Pro Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Arg474Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg475Trp Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.Arg494Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg524Lys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg525Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.Arg57Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg587Trp Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2B
RET p.Arg600Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg635His Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Arg635Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg677Trp Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg693Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg693His Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2B
RET p.Arg770Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg77Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg813Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg813Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg817Cys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.Arg817His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg820Cys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg820His Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg886Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg912Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg959Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg972Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg982Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn1044Lys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asn1044Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn1059Ile Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asn1068Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn151Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn151Ile Uncertain significance Multiple submitters
familial medullary thyroid carcinoma
RET p.Asn199Ser Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Asn336Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asn343Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn359Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn377Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn437Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn437Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn468Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn554Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn554Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn579Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn610Ser Uncertain significance Multiple submitters
pheochromocytoma
RET p.Asn610Thr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asn702Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn763Asp Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asn763Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn763Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2B
RET p.Asn763Thr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asn777Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asn783Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn834Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asn950Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asp1000Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp1017Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp1031Asn Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.Asp1042Asn Uncertain significance Multiple submitters
familial medullary thyroid carcinoma
RET p.Asp1066Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp1081Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp1113Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp219Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp264Glu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asp277Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp277Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2

Predictors split 470

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 470

RET p.Ala416Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala487Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala498Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala604Val Uncertain significance Multiple submitters
RET-related disorder
RET p.Ala641Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala741Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala793Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ala866Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala883Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ala919Pro Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.Arg1050Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg1089Ile Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg114Cys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2B
RET p.Arg175Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg234Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg250Cys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg297Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg313Gln Uncertain significance Multiple submitters
pheochromocytoma
RET p.Arg313Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg313Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg330Trp Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg348Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg348Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg67Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg721Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg749Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg813Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg844Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg844Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Arg959Gln Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg959Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Arg99Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn1059Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn1059His Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asn1059Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn1059Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn950His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asn975Tyr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asp1000Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp1017Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp1093Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asp378Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp469His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp469Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp707Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Asp707His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp839His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Asp903Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Cys1043Arg Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Cys1043Gly Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Cys426Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Cys426Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Cys426Tyr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Cys430Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Cys430Tyr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Cys478Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Cys515Tyr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Gln326Pro Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Gln327Pro Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2B
RET p.Gln857Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Glu1058Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Glu1058Asp Uncertain significance Multiple submitters
pheochromocytoma
RET p.Glu1058Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Glu1058Lys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Glu1058Val Uncertain significance Multiple submitters
pheochromocytoma
RET p.Glu252Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Glu265Lys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Glu38Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Glu527Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Glu621Lys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Glu713Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Glu768Asp Pathogenic Multiple submitters
hereditary neoplastic syndrome
RET p.Glu818Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Glu867Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Gly183Asp Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2B
RET p.Gly183Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Gly344Cys Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Gly383Asp Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Gly533Ala Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Gly539Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Gly593Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Gly605Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Gly607Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Gly748Asp Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Gly810Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Gly828Arg Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Gly849Asp Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Gly948Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.His333Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.His661Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.His661Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.His745Leu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.His786Tyr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.His926Gln Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ile1057Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ile1057Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ile176Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ile590Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Ile602Phe Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ile858Thr Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Ile944Met Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Leu1027Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Leu1052Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Leu1061Arg Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Leu1061His Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Leu1061Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Leu16Gln Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Leu500Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Leu534Pro Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Leu730Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Leu851Phe Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Leu895Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Leu97Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Leu985Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys1007Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys1007Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys1007Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys1011Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys1011Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys523Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys662Glu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Lys666Arg Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Lys666Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys710Glu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Lys728Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys728Glu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.Lys737Gln Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2B
RET p.Lys747Glu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Lys989Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Lys994Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Met1009Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Met1009Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Met1009Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Met1009Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Met1064Thr Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Met1100Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Met848Lys Uncertain significance Multiple submitters
Hirschsprung disease, susceptibility to, 1
RET p.Met848Val Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2A
RET p.Met868Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Met980Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Phe116Leu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Phe188Leu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Phe285Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Phe381Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Phe555Cys Likely pathogenic Multiple submitters
familial medullary thyroid carcinoma
RET p.Phe612Leu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Phe676Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RET p.Phe744Leu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Phe815Leu Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2
RET p.Phe854Ser Uncertain significance Multiple submitters
multiple endocrine neoplasia type 2

All RET variants

Pathogenic 95

p.Arg180Ter Multiple submitters RET-related disorder
p.Arg897Gln Multiple submitters RET-related disorder ⚠
p.Arg897Ter Multiple submitters multiple endocrine neoplasia type 2
p.Asp631Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys609Arg Multiple submitters hereditary neoplastic syndrome
p.Cys609Gly Multiple submitters multiple endocrine neoplasia type 2A
p.Cys609Phe Multiple submitters RET-related disorder
p.Cys609Ser Multiple submitters hereditary neoplastic syndrome
p.Cys609Tyr Multiple submitters RET-related disorder
p.Cys611Gly Multiple submitters
p.Cys611Phe Multiple submitters hereditary neoplastic syndrome
p.Cys618Gly Multiple submitters pheochromocytoma
p.Cys618Phe Multiple submitters hereditary neoplastic syndrome
p.Cys618Ser Multiple submitters RET-related disorder
p.Cys618Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys620Arg Multiple submitters Hirschsprung disease
p.Cys620Gly Multiple submitters multiple endocrine neoplasia type 2
p.Cys620Phe Multiple submitters familial medullary thyroid carcinoma
p.Cys620Ser Multiple submitters hereditary neoplastic syndrome
p.Cys620Trp Multiple submitters hereditary neoplastic syndrome
p.Cys620Tyr Multiple submitters familial medullary thyroid carcinoma
p.Cys630Arg Multiple submitters hereditary neoplastic syndrome
p.Cys630Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys634Gly Multiple submitters hereditary neoplastic syndrome
p.Cys634Phe Multiple submitters RET-related disorder
p.Cys634Ser Multiple submitters hereditary neoplastic syndrome
p.Cys634Trp Multiple submitters hereditary neoplastic syndrome
p.Gln491Ter Multiple submitters multiple endocrine neoplasia type 2
p.Gln499Ter Multiple submitters multiple endocrine neoplasia type 2
p.Glu768Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly533Cys Multiple submitters hereditary neoplastic syndrome
p.Pro956fs Multiple submitters multiple endocrine neoplasia type 2
p.Ser891Ala Multiple submitters medullary thyroid gland carcinoma ⚠
p.Val804Leu Multiple submitters RET-related disorder ⚠
c.2137-1G>A Single submitter
p.Ala1019fs Single submitter hereditary neoplastic syndrome
p.Arg312fs Single submitter multiple endocrine neoplasia type 2
p.Arg418Ter Single submitter multiple endocrine neoplasia type 2
p.Arg770Ter Single submitter RET-related disorder
p.Arg878fs Single submitter multiple endocrine neoplasia type 2B
p.Arg969Trp Single submitter
p.Asn448fs Single submitter multiple endocrine neoplasia type 2
p.Asp219fs Single submitter hereditary neoplastic syndrome
p.Asp567fs Single submitter multiple endocrine neoplasia type 2
p.Cys449Ter Single submitter multiple endocrine neoplasia type 2
p.Cys581fs Single submitter
p.Cys611Trp Single submitter multiple endocrine neoplasia type 2
p.Cys611Tyr Single submitter multiple endocrine neoplasia type 2
p.Cys620Ter Single submitter Hirschsprung disease
p.Cys634_Arg635delinsTrpGly Single submitter multiple endocrine neoplasia type 2
p.Gln382Ter Single submitter
p.Gln439Ter Single submitter multiple endocrine neoplasia type 2
p.Gln681Ter Single submitter hereditary neoplastic syndrome
p.Gln70Ter Single submitter RET-related disorder
p.Glu178fs Single submitter hereditary neoplastic syndrome
p.Glu238Ter Single submitter Hirschsprung disease, susceptibility to, 1
p.Glu252Ter Single submitter Hirschsprung disease, susceptibility to, 1
p.Glu309fs Single submitter hereditary neoplastic syndrome
p.Glu595Ter Single submitter multiple endocrine neoplasia type 2
p.Glu90Ter Single submitter multiple endocrine neoplasia type 2
p.Gly387fs Single submitter multiple endocrine neoplasia type 2
p.Gly533fs Single submitter
p.Gly69fs Single submitter multiple endocrine neoplasia type 2
p.Gly949fs Single submitter
p.Ile364fs Single submitter multiple endocrine neoplasia type 2
p.Leu16fs Single submitter hereditary neoplastic syndrome
p.Leu779fs Single submitter hereditary neoplastic syndrome
p.Lys1011Ter Single submitter hereditary neoplastic syndrome
p.Met862fs Single submitter
p.Phe147del Single submitter
p.Pro384fs Single submitter multiple endocrine neoplasia type 2
p.Pro476fs Single submitter Inborn genetic diseases
p.Ser1034fs Single submitter hereditary neoplastic syndrome
p.Ser224Ter Single submitter multiple endocrine neoplasia type 2
p.Ser653fs Single submitter multiple endocrine neoplasia type 2
p.Thr946_Leu947insTer Single submitter
p.Trp106Ter Single submitter multiple endocrine neoplasia type 2
p.Trp324Ter Single submitter RET-related disorder
p.Trp334Ter Single submitter multiple endocrine neoplasia type 2
p.Trp85Ter Single submitter multiple endocrine neoplasia type 2
p.Tyr806Ter Single submitter
p.Tyr809Ter Single submitter multiple endocrine neoplasia type 2
p.Tyr905Ter Single submitter multiple endocrine neoplasia type 2
p.Val254fs Single submitter multiple endocrine neoplasia type 2
p.Val282fs Single submitter hereditary neoplastic syndrome
p.Val298fs Single submitter
p.Val351fs Single submitter multiple endocrine neoplasia type 2
p.Val427fs Single submitter sensorineural hearing loss disorder
p.Ala640Gly No assertion criteria multiple endocrine neoplasia type 2A ⚠
p.Arg287Gln No assertion criteria Hirschsprung disease
p.Asp34fs No assertion criteria colorectal cancer
p.Cys531_Gly532insGluGluCys No assertion criteria familial medullary thyroid carcinoma
p.Cys634_Arg635insHisGluLeuCys No assertion criteria MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA
p.Leu1048fs No assertion criteria Hirschsprung disease
p.Trp37Ter No assertion criteria Hirschsprung disease

Pathogenic/Likely pathogenic 19

c.1759+1G>A Multiple submitters RET-related disorder
c.1879+1G>A Multiple submitters multiple endocrine neoplasia type 2
p.Ala883Phe Multiple submitters hereditary neoplastic syndrome
p.Arg77Cys Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Cys609Trp Multiple submitters multiple endocrine neoplasia type 2
p.Cys611Arg Multiple submitters RET-related disorder
p.Cys611Ser Multiple submitters multiple endocrine neoplasia type 2
p.Cys618Arg Multiple submitters hereditary neoplastic syndrome
p.Cys634Arg Multiple submitters RET-related disorder
p.Cys634Leu Multiple submitters hereditary neoplastic syndrome
p.Cys634Tyr Multiple submitters RET-related disorder
p.Glu337fs Multiple submitters RET-related disorder
p.Leu790Phe Multiple submitters hereditary neoplastic syndrome
p.Lys666Asn Multiple submitters RET-related disorder
p.Lys666Glu Multiple submitters pheochromocytoma ⚠
p.Met918Thr Multiple submitters familial medullary thyroid carcinoma
p.Met918Val Multiple submitters hereditary neoplastic syndrome
p.Tyr952fs Multiple submitters RET-related disorder
p.Val804Met Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1 ⚠

Likely pathogenic 63

c.1760-2_1760-1del Multiple submitters hereditary neoplastic syndrome
p.Arg873Trp Multiple submitters Hirschsprung disease, susceptibility to, 1
p.Lys666delinsAsnSer Multiple submitters multiple endocrine neoplasia type 2
p.Phe555Cys Multiple submitters familial medullary thyroid carcinoma ⚠
p.Ser32Leu Multiple submitters RET-related disorder ⚠
c.1522+1G>A Single submitter Hirschsprung disease, susceptibility to, 1
c.1522+2T>C Single submitter multiple endocrine neoplasia type 2
c.1522+6T>C Single submitter RET-related disorder
c.1760-2del Single submitter RET-related disorder
c.1879+1del Single submitter hereditary neoplastic syndrome
c.1880-2A>G Single submitter Hirschsprung disease, susceptibility to, 1
c.2284+13C>T Single submitter multiple endocrine neoplasia type 2A
c.2284+19C>T Single submitter multiple endocrine neoplasia type 2A
c.2284+2T>A Single submitter RET-related disorder
c.2393-2A>C Single submitter RET-related disorder
c.2731-2A>G Single submitter RET-related disorder
c.2940-1G>A Single submitter multiple endocrine neoplasia type 2
c.3039+1G>A Single submitter multiple endocrine neoplasia type 2
c.73+1G>A Single submitter RET-related disorder
c.74-2A>T Single submitter multiple endocrine neoplasia type 2
p.Ala228_Arg231del Single submitter RET-related disorder
p.Ala301_Asp302insGlu Single submitter RET-related disorder
p.Ala306fs Single submitter RET-related disorder
p.Ala35fs Single submitter RET-related disorder
p.Ala877Pro Single submitter Hirschsprung disease, susceptibility to, 1
p.Arg112fs Single submitter Hirschsprung disease, susceptibility to, 1
p.Arg287Leu Single submitter Hirschsprung disease ⚠
p.Arg972Gly Single submitter familial medullary thyroid carcinoma
p.Asn1059del Single submitter RET-related disorder
p.Asp322fs Single submitter Abnormality of the digestive system
p.Asp631_Leu633delinsGlu Single submitter multiple endocrine neoplasia type 2B
p.Cys541Tyr Single submitter multiple endocrine neoplasia type 2
p.Cys581Tyr Single submitter RET-related disorder
p.Cys585Arg Single submitter Hirschsprung disease
p.Cys585Ter Single submitter RET-related disorder
p.Cys630Gly Single submitter multiple endocrine neoplasia type 2
p.Cys630Ser Single submitter hereditary neoplastic syndrome
p.Gln499fs Single submitter RET-related disorder
p.Gln860fs Single submitter RET-related disorder
p.Glu222Ter Single submitter RET-related disorder
p.Glu480Ter Single submitter Hirschsprung disease, susceptibility to, 1
p.Glu768_Leu769insArgLeuProGluTer Single submitter RET-related disorder
p.Gly731del Single submitter RET-related disorder
p.Gly93Ser Single submitter Hirschsprung disease, susceptibility to, 1
p.Ile927fs Single submitter Hirschsprung disease, susceptibility to, 1
p.Leu790_Tyr791delinsPheHis Single submitter hereditary neoplastic syndrome
p.Leu963Pro Single submitter Hirschsprung disease, susceptibility to, 1
p.Lys236Ter Single submitter
p.Lys424Ter Single submitter RET-related disorder
p.Lys477fs Single submitter RET-related disorder
p.Phe329Ter Single submitter RET-related disorder
p.Pro273His Single submitter ovarian cancer ⚠
p.Pro60fs Single submitter RET-related disorder
p.Ser696fs Single submitter RET-related disorder
p.Thr946fs Single submitter RET-related disorder
p.Thr946Ile Single submitter
p.Tyr1096Ter Single submitter
p.Tyr905fs Single submitter RET-related disorder
p.Val331fs Single submitter RET-related disorder
p.Glu867Ter No assertion criteria RET-related disorder
p.His658fs No assertion criteria RET-related disorder
p.Phe147Ser No assertion criteria Hirschsprung disease
p.Val202Leu No assertion criteria Hirschsprung disease ⚠

Conflicting classifications of pathogenicity 406

Showing the top 300 by review status; the full set is in the sitemap.

c.1063+9G>A Single submitter multiple endocrine neoplasia
c.1064-4G>T Single submitter multiple endocrine neoplasia type 2
c.1064-6C>A Single submitter multiple endocrine neoplasia type 2
c.1064-9T>G Single submitter multiple endocrine neoplasia type 2
c.1264-10G>A Single submitter familial medullary thyroid carcinoma
c.1264-4del Single submitter hereditary neoplastic syndrome
c.1264-5C>A Single submitter multiple endocrine neoplasia type 2A
c.1264-5C>G Single submitter Hirschsprung disease, susceptibility to, 1
c.1264-6C>T Single submitter hereditary neoplastic syndrome
c.1264-8C>T Single submitter pheochromocytoma
c.1522+35C>T Single submitter hereditary neoplastic syndrome
c.1523-12T>G Single submitter multiple endocrine neoplasia type 2
c.1523-5T>C Single submitter hereditary neoplastic syndrome
c.1648+10G>A Single submitter multiple endocrine neoplasia type 2
c.1649-4G>A Single submitter hereditary neoplastic syndrome
c.1649-5T>C Single submitter hereditary neoplastic syndrome
c.1759+10G>T Single submitter multiple endocrine neoplasia type 2
c.1879+13C>T Single submitter multiple endocrine neoplasia
c.1879+14G>A Single submitter multiple endocrine neoplasia type 2
c.1880-12C>A Single submitter multiple endocrine neoplasia type 2
c.1880-12C>G Single submitter multiple endocrine neoplasia type 2
c.1880-5C>A Single submitter multiple endocrine neoplasia type 2
c.1880-5C>T Single submitter hereditary neoplastic syndrome
c.2136+15_2136+35del Single submitter hereditary neoplastic syndrome
c.2136+2T>G Single submitter hereditary neoplastic syndrome ⚠
c.2136+9C>T Single submitter multiple endocrine neoplasia type 2
c.2137-13A>G Single submitter multiple endocrine neoplasia type 2
c.2284+54C>A Single submitter hereditary neoplastic syndrome
c.2392+19T>C Single submitter Hirschsprung disease, susceptibility to, 1
c.2392+6G>T Single submitter multiple endocrine neoplasia type 2A
c.2393-14C>G Single submitter multiple endocrine neoplasia type 2
c.2393-14C>T Single submitter multiple endocrine neoplasia
c.2393-4C>G Single submitter hereditary neoplastic syndrome
c.2393-5C>T Single submitter multiple endocrine neoplasia type 2B
c.2607+3G>A Single submitter hereditary neoplastic syndrome
c.2607+4C>T Single submitter pheochromocytoma
c.2607+5G>A Single submitter RET-related disorder
c.2608-5C>G Single submitter multiple endocrine neoplasia type 2
c.2731-5T>C Single submitter multiple endocrine neoplasia type 2A
c.2802-17C>G Single submitter multiple endocrine neoplasia type 2B
c.2802-3C>T Single submitter hereditary neoplastic syndrome
c.2939+6C>T Single submitter multiple endocrine neoplasia type 2
c.2939+7G>A Single submitter renal hypodysplasia/aplasia 1
c.2940-3C>T Single submitter multiple endocrine neoplasia type 2
c.3040-2A>G Single submitter multiple endocrine neoplasia type 2 ⚠
c.3040-3C>T Single submitter hereditary neoplastic syndrome
c.3187+12C>T Single submitter multiple endocrine neoplasia type 2B
c.3188-15T>A Single submitter multiple endocrine neoplasia type 2
c.3188-4T>G Single submitter hereditary neoplastic syndrome
c.626-4G>A Single submitter hereditary neoplastic syndrome
c.73+9385_73+9395del Single submitter multiple endocrine neoplasia type 2
c.74-11_74-10dup Single submitter multiple endocrine neoplasia type 2
c.74-12_74-5del Single submitter multiple endocrine neoplasia type 2
c.74-5C>T Single submitter multiple endocrine neoplasia type 2
c.867+3G>A Single submitter hereditary neoplastic syndrome
c.-132G>T Single submitter multiple endocrine neoplasia
c.*1046G>C Single submitter multiple endocrine neoplasia
c.*1130A>G Single submitter multiple endocrine neoplasia
c.*1326T>C Single submitter multiple endocrine neoplasia
c.*1348G>A Single submitter multiple endocrine neoplasia
c.*1430A>G Single submitter multiple endocrine neoplasia
c.*1644G>C Single submitter multiple endocrine neoplasia
c.*1812C>A Single submitter pheochromocytoma
c.*29C>A Single submitter multiple endocrine neoplasia
c.*84G>A Single submitter multiple endocrine neoplasia
p.Ala1020Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1051Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1105Val Single submitter multiple endocrine neoplasia type 2A ⚠
p.Ala156Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala2_Lys3insMetAla Single submitter hereditary neoplastic syndrome
p.Ala203Thr Single submitter multiple endocrine neoplasia type 2 ⚠
p.Ala217Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala217Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala228Pro Single submitter pheochromocytoma ⚠
p.Ala247Val Single submitter multiple endocrine neoplasia type 2 ⚠
p.Ala325Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala373= Single submitter multiple endocrine neoplasia type 2
p.Ala386= Single submitter multiple endocrine neoplasia
p.Ala386Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala432Glu Single submitter multiple endocrine neoplasia type 2
p.Ala472Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala498Val Single submitter pheochromocytoma ⚠
p.Ala510Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala513Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala513Val Single submitter multiple endocrine neoplasia type 2A ⚠
p.Ala59Thr Single submitter multiple endocrine neoplasia type 2 ⚠
p.Ala59Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala639Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala640= Single submitter multiple endocrine neoplasia type 2A
p.Ala641Thr Single submitter pheochromocytoma ⚠
p.Ala680Thr Single submitter pheochromocytoma ⚠
p.Ala743= Single submitter multiple endocrine neoplasia type 2
p.Ala764Thr Single submitter pheochromocytoma ⚠
p.Arg1050Gln Single submitter multiple endocrine neoplasia type 2B ⚠
p.Arg1050Ter Single submitter hereditary neoplastic syndrome ⚠
p.Arg112= Single submitter hereditary neoplastic syndrome
p.Arg112Cys Single submitter multiple endocrine neoplasia ⚠
p.Arg112His Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Arg133His Single submitter multiple endocrine neoplasia type 2A ⚠
p.Arg144= Single submitter multiple endocrine neoplasia
p.Arg144Cys Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Arg144His Single submitter pheochromocytoma ⚠
p.Arg163Gln Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Arg175Gly Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg177Gln Single submitter multiple endocrine neoplasia type 2B ⚠
p.Arg180Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg189His Single submitter pheochromocytoma ⚠
p.Arg215Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg234Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg250= Single submitter multiple endocrine neoplasia type 2B
p.Arg250Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg297His Single submitter multiple endocrine neoplasia type 2A ⚠
p.Arg330Gln Single submitter familial medullary thyroid carcinoma ⚠
p.Arg355Gly Single submitter pheochromocytoma ⚠
p.Arg360Trp Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg368Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg368His Single submitter familial medullary thyroid carcinoma ⚠
p.Arg417Cys Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg417His Single submitter hereditary neoplastic syndrome ⚠
p.Arg418Gln Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Arg474Gln Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Arg474Trp Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg475Gln Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Arg525= Single submitter hereditary neoplastic syndrome
p.Arg525Gln Single submitter multiple endocrine neoplasia type 2A ⚠
p.Arg525Trp Single submitter RET-related disorder ⚠
p.Arg540= Single submitter hereditary neoplastic syndrome
p.Arg540Gly Single submitter multiple endocrine neoplasia type 2B ⚠
p.Arg57Gln Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg600Trp Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg677Gln Single submitter multiple endocrine neoplasia type 2A ⚠
p.Arg694Gln Single submitter pheochromocytoma ⚠
p.Arg694Trp Single submitter RET-related disorder ⚠
p.Arg77His Single submitter hereditary neoplastic syndrome ⚠
p.Arg79Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg79Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg833Cys Single submitter pheochromocytoma ⚠
p.Arg833His Single submitter hereditary neoplastic syndrome ⚠
p.Arg844Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg886Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg886Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg908= Single submitter multiple endocrine neoplasia type 2
p.Arg912Leu Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg969Gln Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg982Cys Single submitter familial medullary thyroid carcinoma ⚠
p.Arg982His Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg982Ser Single submitter multiple endocrine neoplasia type 2 ⚠
p.Arg99Gln Single submitter multiple endocrine neoplasia type 2 ⚠
p.Asn1059Ser Single submitter Hirschsprung disease, susceptibility to, 1
p.Asn151Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn199= Single submitter multiple endocrine neoplasia
p.Asn359Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn361Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn429Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn448Lys Single submitter pheochromocytoma ⚠
p.Asn448Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn554= Single submitter hereditary neoplastic syndrome
p.Asn610His Single submitter hereditary neoplastic syndrome ⚠
p.Asn783= Single submitter multiple endocrine neoplasia type 2A
p.Asn783Thr Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Asp102= Single submitter hereditary neoplastic syndrome
p.Asp102Asn Single submitter RET-related disorder ⚠
p.Asp1031= Single submitter multiple endocrine neoplasia type 2
p.Asp1081= Single submitter multiple endocrine neoplasia
p.Asp300Asn Single submitter RET-related disorder ⚠
p.Asp34Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp380Asn Single submitter multiple endocrine neoplasia type 2B ⚠
p.Asp489Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp567Asn Single submitter multiple endocrine neoplasia ⚠
p.Asp571Asn Single submitter multiple endocrine neoplasia type 2 ⚠
p.Asp631Asn Single submitter pheochromocytoma ⚠
p.Asp631Val Single submitter multiple endocrine neoplasia type 2 ⚠
p.Cys430Arg Single submitter hereditary neoplastic syndrome ⚠
p.Cys531Arg Single submitter hereditary neoplastic syndrome ⚠
p.Cys558= Single submitter multiple endocrine neoplasia type 2
p.Cys609= Single submitter hereditary neoplastic syndrome
p.Cys620= Single submitter hereditary neoplastic syndrome
p.Cys630= Single submitter multiple endocrine neoplasia
p.Cys656= Single submitter hereditary neoplastic syndrome
p.Gln326Arg Single submitter multiple endocrine neoplasia type 2B ⚠
p.Gln382= Single submitter multiple endocrine neoplasia type 2
p.Gln490Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln490Glu Single submitter multiple endocrine neoplasia type 2 ⚠
p.Gln626= Single submitter multiple endocrine neoplasia type 2
p.Gln681Glu Single submitter multiple endocrine neoplasia type 2 ⚠
p.Gln781Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln89Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu136Lys Single submitter multiple endocrine neoplasia type 2B ⚠
p.Glu210Lys Single submitter multiple endocrine neoplasia type 2A ⚠
p.Glu238Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu252Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu459Lys Single submitter multiple endocrine neoplasia type 2B ⚠
p.Glu480Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu511Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu616del Single submitter hereditary neoplastic syndrome
p.Glu616Lys Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Glu623Lys Single submitter multiple endocrine neoplasia type 2A ⚠
p.Glu632Lys Single submitter familial medullary thyroid carcinoma ⚠
p.Glu734Lys Single submitter RET-related disorder ⚠
p.Glu818= Single submitter pheochromocytoma
p.Glu818Lys Single submitter pheochromocytoma
p.Glu843Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu867Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu978Lys Single submitter hereditary neoplastic syndrome ⚠
p.Gly1032Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly1086Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly135= Single submitter RET-related disorder
p.Gly248Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly28Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly321Arg Single submitter RET-related disorder ⚠
p.Gly446Ser Single submitter multiple endocrine neoplasia type 2 ⚠
p.Gly47Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly533Ser Single submitter multiple endocrine neoplasia ⚠
p.Gly548Ser Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Gly550Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly568Ser Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Gly607= Single submitter hereditary neoplastic syndrome
p.Gly691Ser Single submitter prostate neoplasm ⚠
p.Gly733= Single submitter Hirschsprung disease, susceptibility to, 1
p.Gly733Asp Single submitter RET-related disorder ⚠
p.Gly74Ser Single submitter multiple endocrine neoplasia type 2B ⚠
p.Gly830Arg Single submitter multiple endocrine neoplasia type 2B ⚠
p.Gly831= Single submitter multiple endocrine neoplasia type 2
p.Gly831Val Single submitter hereditary neoplastic syndrome ⚠
p.His103Arg Single submitter pheochromocytoma ⚠
p.His103Tyr Single submitter multiple endocrine neoplasia type 2 ⚠
p.His246Asn Single submitter pheochromocytoma ⚠
p.His246Asp Single submitter multiple endocrine neoplasia type 2 ⚠
p.His352Arg Single submitter RET-related disorder ⚠
p.His443Tyr Single submitter multiple endocrine neoplasia type 2 ⚠
p.His482Arg Single submitter multiple endocrine neoplasia type 2 ⚠
p.His745Arg Single submitter multiple endocrine neoplasia type 2 ⚠
p.His926Asp Single submitter pheochromocytoma ⚠
p.His968Tyr Single submitter multiple endocrine neoplasia type 2 ⚠
p.Ile1057= Single submitter hereditary neoplastic syndrome
p.Ile364Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile436Val Single submitter multiple endocrine neoplasia type 2 ⚠
p.Ile551= Single submitter hereditary neoplastic syndrome
p.Ile638= Single submitter multiple endocrine neoplasia type 2
p.Ile647= Single submitter hereditary neoplastic syndrome
p.Ile669Val Single submitter multiple endocrine neoplasia type 2 ⚠
p.Ile852Met Single submitter multiple endocrine neoplasia type 2A ⚠
p.Ile920Val Single submitter multiple endocrine neoplasia type 2A ⚠
p.Leu1018Phe Single submitter multiple endocrine neoplasia ⚠
p.Leu1048Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu1077= Single submitter hereditary neoplastic syndrome
p.Leu11= Single submitter hereditary neoplastic syndrome
p.Leu11Met Single submitter hereditary neoplastic syndrome ⚠
p.Leu132Ile Single submitter multiple endocrine neoplasia type 2 ⚠
p.Leu18_Leu19del Single submitter hereditary neoplastic syndrome
p.Leu19_Pro20insLeu Single submitter multiple endocrine neoplasia type 2
p.Leu19_Pro20insLeuLeu Single submitter hereditary neoplastic syndrome
p.Leu19_Pro20insLeuLeuLeu Single submitter pheochromocytoma
p.Leu19del Single submitter multiple endocrine neoplasia type 2
p.Leu362Ile Single submitter multiple endocrine neoplasia type 2 ⚠
p.Leu375Gln Single submitter hereditary neoplastic syndrome ⚠
p.Leu389Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu410Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu452Ile Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia ⚠
p.Leu481Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu501Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu56Met Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Leu633Val Single submitter multiple endocrine neoplasia type 2A ⚠
p.Leu712Pro Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Leu801= Single submitter hereditary neoplastic syndrome
p.Leu827Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu846= Single submitter multiple endocrine neoplasia
p.Lys108Gln Single submitter hereditary neoplastic syndrome ⚠
p.Lys424Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys666= Single submitter hereditary neoplastic syndrome
p.Lys710Arg Single submitter multiple endocrine neoplasia ⚠
p.Lys722Asn Single submitter Hereditary cancer ⚠
p.Lys780= Single submitter hereditary neoplastic syndrome
p.Lys789Glu Single submitter multiple endocrine neoplasia type 2B ⚠
p.Lys821Glu Single submitter hereditary neoplastic syndrome ⚠
p.Lys994Asn Single submitter multiple endocrine neoplasia type 2A ⚠
p.Met1064Ile Single submitter multiple endocrine neoplasia type 2A ⚠
p.Met1109Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met370Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met484Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met484Val Single submitter hereditary neoplastic syndrome ⚠
p.Met848Ile Single submitter Hirschsprung disease, susceptibility to, 1 ⚠
p.Phe126Leu Single submitter multiple endocrine neoplasia type 2 ⚠
p.Phe149= Single submitter multiple endocrine neoplasia type 2
p.Phe195= Single submitter hereditary neoplastic syndrome
p.Phe381Leu Single submitter multiple endocrine neoplasia type 2 ⚠
p.Pro1039Leu Single submitter familial medullary thyroid carcinoma ⚠
p.Pro1047= Single submitter multiple endocrine neoplasia type 2
p.Pro1067Leu Single submitter familial medullary thyroid carcinoma ⚠
p.Pro1067Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro182Ser Single submitter multiple endocrine neoplasia type 2 ⚠
p.Pro320Leu Single submitter ovarian cancer ⚠
p.Pro320Ser Single submitter multiple endocrine neoplasia type 2 ⚠
p.Pro384Ala Single submitter hereditary neoplastic syndrome ⚠
p.Pro399Leu Single submitter RET-related disorder ⚠
p.Pro537Leu Single submitter multiple endocrine neoplasia type 2 ⚠
p.Pro560Ser Single submitter Hereditary cancer ⚠
p.Pro60Ser Single submitter multiple endocrine neoplasia type 2A ⚠
p.Pro668= Single submitter multiple endocrine neoplasia type 2
p.Pro684= Single submitter multiple endocrine neoplasia

Benign 74

c.1064-89A>T Multiple submitters
c.1759+111G>C Multiple submitters
c.2284+47C>T Multiple submitters hereditary neoplastic syndrome
c.2608-147C>T Multiple submitters multiple endocrine neoplasia type 2
c.2608-24G>A Multiple submitters hereditary neoplastic syndrome
c.2801+54A>T Multiple submitters
c.2801+72G>A Multiple submitters
c.3187+47T>C Multiple submitters multiple endocrine neoplasia type 2A
c.73+172A>C Multiple submitters
c.73+53G>A Multiple submitters multiple endocrine neoplasia type 2A
c.74-126G>T Multiple submitters multiple endocrine neoplasia type 2
c.867+223A>T Multiple submitters
c.867+48A>G Multiple submitters hereditary neoplastic syndrome
c.868-18G>A Multiple submitters hereditary neoplastic syndrome
c.868-75T>C Multiple submitters
c.*1116T>C Multiple submitters multiple endocrine neoplasia
c.*1506G>A Multiple submitters multiple endocrine neoplasia
c.*388G>A Multiple submitters multiple endocrine neoplasia
c.*95C>T Multiple submitters pheochromocytoma
p.Leu769= Multiple submitters pheochromocytoma
c.1263+272A>G Single submitter
c.1264-14del Single submitter multiple endocrine neoplasia type 2
c.1522+308C>G Single submitter
c.1648+188G>A Single submitter
c.1649-187C>T Single submitter
c.1759+242G>A Single submitter
c.1760-140C>G Single submitter
c.1760-57G>T Single submitter
c.2136+182G>A Single submitter
c.2136+271T>C Single submitter
c.2137-167T>C Single submitter
c.2137-253C>T Single submitter
c.2137-324A>G Single submitter
c.2137-384C>T Single submitter
c.2137-744A>G Single submitter
c.2285-85G>A Single submitter
c.2392+302G>A Single submitter
c.2393-94C>A Single submitter
c.2608-124G>A Single submitter
c.2608-8C>T Single submitter multiple endocrine neoplasia type 2A
c.2730+229T>C Single submitter
c.2730+257C>T Single submitter
c.2730+322C>T Single submitter
c.2731-227C>G Single submitter
c.2731-290A>G Single submitter
c.2802-19G>A Single submitter multiple endocrine neoplasia type 2
c.2939+10dup Single submitter multiple endocrine neoplasia type 2
c.2940-197C>T Single submitter
c.2940-252G>A Single submitter
c.3040-311A>G Single submitter
c.3188-3dup Single submitter multiple endocrine neoplasia type 2
c.337+137G>T Single submitter
c.338-106G>A Single submitter
c.625+118A>G Single submitter
c.625+143C>T Single submitter
c.626-72_626-71del Single submitter
c.73+171_73+172del Single submitter
c.73+173_73+174insCGGGCGGCG Single submitter
c.74-50G>T Single submitter multiple endocrine neoplasia type 2A
c.74-57del Single submitter
c.74-57dup Single submitter
p.Ala604= Single submitter multiple endocrine neoplasia type 2A
p.Ala672= Single submitter multiple endocrine neoplasia type 2A
p.Arg313= Single submitter multiple endocrine neoplasia type 2A
p.Arg886= Single submitter multiple endocrine neoplasia type 2A
p.Cys659= Single submitter multiple endocrine neoplasia type 2A
p.Glu598= Single submitter multiple endocrine neoplasia type 2A
p.Glu768_Leu769= Single submitter multiple endocrine neoplasia type 2A
p.Ile625= Single submitter multiple endocrine neoplasia type 2A
p.Leu697= Single submitter multiple endocrine neoplasia type 2A
p.Ser645= Single submitter multiple endocrine neoplasia type 2A
p.Ser904_Tyr905= Single submitter multiple endocrine neoplasia type 2A
p.Thr315= Single submitter multiple endocrine neoplasia type 2A
p.Val882= Single submitter multiple endocrine neoplasia type 2A

Benign/Likely benign 183

c.1063+47G>A Multiple submitters
c.1064-18T>C Multiple submitters multiple endocrine neoplasia type 2
c.1264-4C>T Multiple submitters hereditary neoplastic syndrome
c.1264-4dup Multiple submitters multiple endocrine neoplasia type 2
c.1264-5C>T Multiple submitters multiple endocrine neoplasia type 2A
c.1523-7C>T Multiple submitters multiple endocrine neoplasia
c.1760-12G>A Multiple submitters hereditary neoplastic syndrome
c.1879+17C>T Multiple submitters multiple endocrine neoplasia type 2B
c.1880-16C>T Multiple submitters multiple endocrine neoplasia type 2A
c.2136+15G>A Multiple submitters multiple endocrine neoplasia type 2B
c.2284+46G>C Multiple submitters
c.2285-16C>T Multiple submitters multiple endocrine neoplasia type 2
c.2285-4T>G Multiple submitters hereditary neoplastic syndrome
c.2393-16del Multiple submitters multiple endocrine neoplasia type 2
c.2393-8G>A Multiple submitters multiple endocrine neoplasia type 2
c.2393-9C>T Multiple submitters hereditary neoplastic syndrome
c.3040-20C>T Multiple submitters multiple endocrine neoplasia type 2
c.3187+198T>A Multiple submitters
c.3188-9C>T Multiple submitters Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
c.337+12G>A Multiple submitters multiple endocrine neoplasia type 2
c.337+34C>T Multiple submitters multiple endocrine neoplasia type 2B
c.337+9G>A Multiple submitters multiple endocrine neoplasia type 2B
c.625+139C>T Multiple submitters
c.626-7T>C Multiple submitters multiple endocrine neoplasia type 2
c.868-6C>T Multiple submitters Hirschsprung disease, susceptibility to, 1
c.868-9A>G Multiple submitters multiple endocrine neoplasia type 2
c.*1591G>A Multiple submitters multiple endocrine neoplasia
c.*1969T>C Multiple submitters multiple endocrine neoplasia
c.*576G>A Multiple submitters multiple endocrine neoplasia
p.Ala156= Multiple submitters familial medullary thyroid carcinoma
p.Ala306= Multiple submitters multiple endocrine neoplasia type 2
p.Ala349= Multiple submitters multiple endocrine neoplasia type 2
p.Ala373Val Multiple submitters hereditary neoplastic syndrome
p.Ala479= Multiple submitters hereditary neoplastic syndrome
p.Ala510= Multiple submitters Hirschsprung disease, susceptibility to, 1
p.Ala513= Multiple submitters hereditary neoplastic syndrome
p.Ala641= Multiple submitters multiple endocrine neoplasia type 2
p.Ala654= Multiple submitters hereditary neoplastic syndrome
p.Ala708= Multiple submitters multiple endocrine neoplasia type 2
p.Ala845= Multiple submitters pheochromocytoma
p.Ala855= Multiple submitters multiple endocrine neoplasia type 2
p.Ala866= Multiple submitters hereditary neoplastic syndrome
p.Ala876= Multiple submitters hereditary neoplastic syndrome
p.Ala919= Multiple submitters multiple endocrine neoplasia type 2A
p.Arg114His Multiple submitters multiple endocrine neoplasia
p.Arg231= Multiple submitters hereditary neoplastic syndrome
p.Arg312= Multiple submitters hereditary neoplastic syndrome
p.Arg677= Multiple submitters hereditary neoplastic syndrome
p.Arg67His Multiple submitters multiple endocrine neoplasia
p.Arg693= Multiple submitters hereditary neoplastic syndrome
p.Arg749Thr Multiple submitters hereditary neoplastic syndrome
p.Arg813= Multiple submitters hereditary neoplastic syndrome
p.Arg817= Multiple submitters multiple endocrine neoplasia type 2
p.Arg873= Multiple submitters hereditary neoplastic syndrome
p.Asn336= Multiple submitters multiple endocrine neoplasia type 2
p.Asn343= Multiple submitters hereditary neoplastic syndrome
p.Asn763= Multiple submitters hereditary neoplastic syndrome
p.Asn777= Multiple submitters multiple endocrine neoplasia type 2
p.Asn834= Multiple submitters hereditary neoplastic syndrome
p.Asn879= Multiple submitters hereditary neoplastic syndrome
p.Asp1030= Multiple submitters hereditary neoplastic syndrome
p.Asp302= Multiple submitters multiple endocrine neoplasia type 2
p.Asp353= Multiple submitters multiple endocrine neoplasia type 2
p.Asp489Asn Multiple submitters multiple endocrine neoplasia type 2A
p.Asp567= Multiple submitters hereditary neoplastic syndrome
p.Asp631= Multiple submitters hereditary neoplastic syndrome
p.Asp850= Multiple submitters hereditary neoplastic syndrome
p.Asp892= Multiple submitters multiple endocrine neoplasia type 2A
p.Cys519= Multiple submitters hereditary neoplastic syndrome
p.Cys611= Multiple submitters hereditary neoplastic syndrome
p.Cys618= Multiple submitters multiple endocrine neoplasia type 2A
p.Gln194= Multiple submitters familial medullary thyroid carcinoma
p.Gln327= Multiple submitters multiple endocrine neoplasia type 2A
p.Gln781= Multiple submitters hereditary neoplastic syndrome
p.Gln796= Multiple submitters multiple endocrine neoplasia type 2A
p.Gln860= Multiple submitters hereditary neoplastic syndrome
p.Gln863= Multiple submitters hereditary neoplastic syndrome
p.Glu208Asp Multiple submitters multiple endocrine neoplasia type 2
p.Glu332= Multiple submitters hereditary neoplastic syndrome
p.Glu337= Multiple submitters hereditary neoplastic syndrome
p.Glu530= Multiple submitters hereditary neoplastic syndrome
p.Glu614= Multiple submitters hereditary neoplastic syndrome
p.Glu616= Multiple submitters multiple endocrine neoplasia type 2A
p.Glu843= Multiple submitters multiple endocrine neoplasia type 2
p.Glu867= Multiple submitters hereditary neoplastic syndrome
p.Glu90= Multiple submitters multiple endocrine neoplasia type 2
p.Gly321= Multiple submitters hereditary neoplastic syndrome
p.Gly446Arg Multiple submitters multiple endocrine neoplasia type 2A
p.Gly532= Multiple submitters multiple endocrine neoplasia type 2A
p.Gly535= Multiple submitters multiple endocrine neoplasia type 2
p.Gly548= Multiple submitters hereditary neoplastic syndrome
p.Gly588= Multiple submitters hereditary neoplastic syndrome
p.Gly592= Multiple submitters hereditary neoplastic syndrome
p.Gly601= Multiple submitters multiple endocrine neoplasia type 2A
p.Gly691= Multiple submitters multiple endocrine neoplasia type 2A
p.Gly792= Multiple submitters multiple endocrine neoplasia type 2A
p.Gly798= Multiple submitters hereditary neoplastic syndrome
p.Gly810= Multiple submitters multiple endocrine neoplasia type 2
p.Gly849= Multiple submitters hereditary neoplastic syndrome
p.Gly885= Multiple submitters multiple endocrine neoplasia type 2
p.Gly894= Multiple submitters multiple endocrine neoplasia type 2
p.His352= Multiple submitters hereditary neoplastic syndrome
p.His594= Multiple submitters hereditary neoplastic syndrome
p.His658= Multiple submitters hereditary neoplastic syndrome
p.His661= Multiple submitters multiple endocrine neoplasia type 2
p.His665= Multiple submitters hereditary neoplastic syndrome
p.His784= Multiple submitters multiple endocrine neoplasia type 2A
p.His786= Multiple submitters hereditary neoplastic syndrome
p.Ile590= Multiple submitters multiple endocrine neoplasia type 2
p.Ile711= Multiple submitters multiple endocrine neoplasia type 2
p.Ile803= Multiple submitters hereditary neoplastic syndrome
p.Ile852Val Multiple submitters hereditary neoplastic syndrome
p.Ile88Val Multiple submitters hereditary neoplastic syndrome
p.Ile920= Multiple submitters multiple endocrine neoplasia type 2
p.Ile927= Multiple submitters multiple endocrine neoplasia type 2
p.Leu526= Multiple submitters hereditary neoplastic syndrome
p.Leu629= Multiple submitters hereditary neoplastic syndrome
p.Leu633= Multiple submitters hereditary neoplastic syndrome
p.Leu773= Multiple submitters hereditary neoplastic syndrome
p.Leu790= Multiple submitters hereditary neoplastic syndrome
p.Leu800= Multiple submitters hereditary neoplastic syndrome
p.Leu802= Multiple submitters multiple endocrine neoplasia type 2
p.Leu816= Multiple submitters multiple endocrine neoplasia type 2A
p.Leu851= Multiple submitters multiple endocrine neoplasia type 2A
p.Leu870= Multiple submitters hereditary neoplastic syndrome
p.Leu875= Multiple submitters hereditary neoplastic syndrome
p.Leu881= Multiple submitters multiple endocrine neoplasia type 2
p.Lys523= Multiple submitters hereditary neoplastic syndrome
p.Lys617= Multiple submitters hereditary neoplastic syndrome
p.Lys662= Multiple submitters multiple endocrine neoplasia type 2
p.Lys887= Multiple submitters hereditary neoplastic syndrome
p.Lys907= Multiple submitters multiple endocrine neoplasia type 2
p.Phe299= Multiple submitters multiple endocrine neoplasia type 2B
p.Phe346= Multiple submitters hereditary neoplastic syndrome
p.Phe612= Multiple submitters multiple endocrine neoplasia type 2
p.Phe683= Multiple submitters multiple endocrine neoplasia type 2A
p.Phe815= Multiple submitters hereditary neoplastic syndrome
p.Phe893= Multiple submitters multiple endocrine neoplasia type 2A
p.Pro218= Multiple submitters multiple endocrine neoplasia
p.Pro320= Multiple submitters multiple endocrine neoplasia type 2A
p.Pro516= Multiple submitters multiple endocrine neoplasia type 2
p.Pro613= Multiple submitters multiple endocrine neoplasia type 2A
p.Pro622= Multiple submitters hereditary neoplastic syndrome
p.Pro667= Multiple submitters hereditary neoplastic syndrome
p.Pro679= Multiple submitters multiple endocrine neoplasia
p.Ser307= Multiple submitters multiple endocrine neoplasia type 2
p.Ser696= Multiple submitters multiple endocrine neoplasia
p.Ser774= Multiple submitters multiple endocrine neoplasia type 2
p.Ser795= Multiple submitters multiple endocrine neoplasia type 2A
p.Ser811= Multiple submitters multiple endocrine neoplasia type 2B
p.Ser819= Multiple submitters hereditary neoplastic syndrome
p.Ser835= Multiple submitters hereditary neoplastic syndrome
p.Ser836= Multiple submitters hereditary neoplastic syndrome
p.Ser891= Multiple submitters familial medullary thyroid carcinoma
p.Ser896= Multiple submitters multiple endocrine neoplasia type 2
p.Ser904= Multiple submitters multiple endocrine neoplasia type 2
p.Thr278Asn Multiple submitters multiple endocrine neoplasia
p.Thr328= Multiple submitters multiple endocrine neoplasia type 2
p.Thr350= Multiple submitters pheochromocytoma
p.Thr636= Multiple submitters pheochromocytoma
p.Thr742= Multiple submitters hereditary neoplastic syndrome
p.Thr929= Multiple submitters multiple endocrine neoplasia type 2A
p.Tyr660= Multiple submitters hereditary neoplastic syndrome
p.Tyr791= Multiple submitters multiple endocrine neoplasia type 2
p.Tyr806= Multiple submitters pheochromocytoma
p.Tyr809= Multiple submitters pheochromocytoma
p.Tyr826= Multiple submitters multiple endocrine neoplasia type 2
p.Tyr900= Multiple submitters hereditary neoplastic syndrome
p.Tyr905= Multiple submitters hereditary neoplastic syndrome
p.Tyr928= Multiple submitters multiple endocrine neoplasia type 2A
p.Tyr981= Multiple submitters hereditary neoplastic syndrome
p.Val292= Multiple submitters hereditary neoplastic syndrome
p.Val331= Multiple submitters hereditary neoplastic syndrome
p.Val591= Multiple submitters hereditary neoplastic syndrome
p.Val637= Multiple submitters multiple endocrine neoplasia type 2
p.Val642= Multiple submitters multiple endocrine neoplasia type 2
p.Val704= Multiple submitters hereditary neoplastic syndrome
c.*1558A>C Single submitter multiple endocrine neoplasia
c.*1583G>A Single submitter multiple endocrine neoplasia
c.*1599G>A Single submitter multiple endocrine neoplasia
c.*1870C>T Single submitter multiple endocrine neoplasia
c.*330A>G Single submitter multiple endocrine neoplasia
c.*492G>C Single submitter multiple endocrine neoplasia

Likely benign 1134

Showing the top 300 by review status; the full set is in the sitemap.

c.1063+10G>A Multiple submitters multiple endocrine neoplasia type 2A
c.1063+145A>G Multiple submitters
c.1063+20C>T Multiple submitters multiple endocrine neoplasia type 2
c.1063+7G>A Multiple submitters multiple endocrine neoplasia type 2
c.1064-10C>T Multiple submitters multiple endocrine neoplasia type 2
c.1064-14G>T Multiple submitters multiple endocrine neoplasia type 2
c.1064-16G>T Multiple submitters multiple endocrine neoplasia type 2
c.1064-6C>T Multiple submitters multiple endocrine neoplasia type 2
c.1263+19C>T Multiple submitters pheochromocytoma
c.1264-12G>A Multiple submitters multiple endocrine neoplasia type 2
c.1264-15C>T Multiple submitters multiple endocrine neoplasia type 2
c.1264-7C>T Multiple submitters multiple endocrine neoplasia type 2
c.1522+17G>A Multiple submitters multiple endocrine neoplasia type 2
c.1522+18G>A Multiple submitters multiple endocrine neoplasia type 2
c.1522+20A>G Multiple submitters multiple endocrine neoplasia type 2
c.1523-12T>C Multiple submitters multiple endocrine neoplasia type 2
c.1523-4G>A Multiple submitters hereditary neoplastic syndrome
c.1523-6C>T Multiple submitters multiple endocrine neoplasia type 2A
c.1648+14A>G Multiple submitters familial medullary thyroid carcinoma
c.1648+7C>T Multiple submitters multiple endocrine neoplasia type 2
c.1649-11G>T Multiple submitters multiple endocrine neoplasia type 2
c.1649-7T>C Multiple submitters multiple endocrine neoplasia type 2
c.1760-13C>T Multiple submitters multiple endocrine neoplasia type 2
c.1760-17G>T Multiple submitters multiple endocrine neoplasia type 2
c.1760-18G>A Multiple submitters multiple endocrine neoplasia type 2
c.1760-20T>C Multiple submitters multiple endocrine neoplasia type 2
c.1879+15G>T Multiple submitters multiple endocrine neoplasia type 2
c.1879+18G>A Multiple submitters multiple endocrine neoplasia type 2B
c.1879+7G>A Multiple submitters multiple endocrine neoplasia type 2
c.1880-13C>A Multiple submitters multiple endocrine neoplasia type 2A
c.1880-13C>T Multiple submitters multiple endocrine neoplasia type 2
c.1880-15C>T Multiple submitters multiple endocrine neoplasia type 2
c.1880-9C>T Multiple submitters multiple endocrine neoplasia type 2A
c.2136+10C>A Multiple submitters multiple endocrine neoplasia type 2
c.2137-11T>G Multiple submitters multiple endocrine neoplasia type 2
c.2137-7A>G Multiple submitters multiple endocrine neoplasia type 2
c.2137-8C>T Multiple submitters multiple endocrine neoplasia type 2
c.2284+15C>T Multiple submitters pheochromocytoma
c.2285-18C>T Multiple submitters multiple endocrine neoplasia type 2
c.2392+10G>A Multiple submitters multiple endocrine neoplasia type 2
c.2392+14C>T Multiple submitters multiple endocrine neoplasia type 2
c.2393-17C>T Multiple submitters multiple endocrine neoplasia type 2
c.2393-19C>T Multiple submitters multiple endocrine neoplasia type 2
c.2393-4C>T Multiple submitters multiple endocrine neoplasia type 2A
c.2393-6C>T Multiple submitters multiple endocrine neoplasia type 2
c.2393-7C>T Multiple submitters multiple endocrine neoplasia type 2
c.2393-8G>C Multiple submitters multiple endocrine neoplasia type 2A
c.2393-8G>T Multiple submitters multiple endocrine neoplasia type 2
c.2607+11A>G Multiple submitters multiple endocrine neoplasia type 2A
c.2607+136A>G Multiple submitters
c.2607+9A>G Multiple submitters multiple endocrine neoplasia type 2
c.2607+9A>T Multiple submitters multiple endocrine neoplasia type 2
c.2608-14A>G Multiple submitters multiple endocrine neoplasia type 2
c.2608-16C>T Multiple submitters multiple endocrine neoplasia type 2
c.2608-19G>A Multiple submitters multiple endocrine neoplasia type 2
c.2608-19G>C Multiple submitters multiple endocrine neoplasia type 2
c.2608-19G>T Multiple submitters multiple endocrine neoplasia type 2
c.2608-20C>T Multiple submitters multiple endocrine neoplasia type 2
c.2608-9del Multiple submitters multiple endocrine neoplasia type 2
c.2608-9dup Multiple submitters multiple endocrine neoplasia type 2A
c.2730+12C>T Multiple submitters multiple endocrine neoplasia type 2
c.2731-11C>T Multiple submitters multiple endocrine neoplasia type 2A
c.2731-13A>G Multiple submitters multiple endocrine neoplasia type 2
c.2731-14C>T Multiple submitters multiple endocrine neoplasia type 2
c.2731-15C>G Multiple submitters multiple endocrine neoplasia type 2
c.2731-18A>G Multiple submitters multiple endocrine neoplasia type 2
c.2731-20T>C Multiple submitters multiple endocrine neoplasia type 2
c.2731-8C>G Multiple submitters multiple endocrine neoplasia type 2
c.2731-9T>C Multiple submitters multiple endocrine neoplasia type 2A
c.2802-11A>T Multiple submitters multiple endocrine neoplasia type 2
c.2802-13del Multiple submitters multiple endocrine neoplasia type 2
c.2802-4G>T Multiple submitters hereditary neoplastic syndrome
c.2939+13T>C Multiple submitters multiple endocrine neoplasia type 2B
c.2939+20G>A Multiple submitters multiple endocrine neoplasia type 2
c.2940-11C>T Multiple submitters multiple endocrine neoplasia type 2
c.2940-12T>C Multiple submitters multiple endocrine neoplasia type 2
c.2940-4C>T Multiple submitters hereditary neoplastic syndrome
c.2940-6C>T Multiple submitters multiple endocrine neoplasia type 2
c.2940-8C>T Multiple submitters multiple endocrine neoplasia type 2
c.3040-11C>T Multiple submitters multiple endocrine neoplasia type 2
c.3040-4C>A Multiple submitters multiple endocrine neoplasia type 2
c.3040-9G>C Multiple submitters multiple endocrine neoplasia type 2
c.337+10C>T Multiple submitters multiple endocrine neoplasia type 2
c.337+11C>T Multiple submitters multiple endocrine neoplasia type 2
c.337+20A>C Multiple submitters
c.338-15G>C Multiple submitters multiple endocrine neoplasia type 2
c.338-4G>A Multiple submitters hereditary neoplastic syndrome
c.338-6C>T Multiple submitters multiple endocrine neoplasia type 2
c.625+10G>A Multiple submitters multiple endocrine neoplasia type 2
c.625+11A>G Multiple submitters multiple endocrine neoplasia type 2B
c.625+9C>T Multiple submitters multiple endocrine neoplasia type 2
c.626-41G>A Multiple submitters pheochromocytoma
c.73+10G>C Multiple submitters multiple endocrine neoplasia type 2
c.73+17G>T Multiple submitters pheochromocytoma
c.73+9T>G Multiple submitters multiple endocrine neoplasia type 2
c.867+166G>A Multiple submitters
c.868-11G>A Multiple submitters multiple endocrine neoplasia type 2
c.868-15C>T Multiple submitters multiple endocrine neoplasia type 2
c.868-16C>T Multiple submitters multiple endocrine neoplasia type 2
c.868-18G>T Multiple submitters Hirschsprung disease, susceptibility to, 1
c.868-19C>T Multiple submitters multiple endocrine neoplasia type 2
c.868-4del Multiple submitters hereditary neoplastic syndrome
c.868-4G>A Multiple submitters hereditary neoplastic syndrome
c.868-4G>T Multiple submitters multiple endocrine neoplasia type 2
c.868-63G>C Multiple submitters
c.868-7C>T Multiple submitters multiple endocrine neoplasia type 2
c.868-9A>C Multiple submitters multiple endocrine neoplasia type 2
p.Ala1020= Multiple submitters hereditary neoplastic syndrome
p.Ala1051= Multiple submitters multiple endocrine neoplasia type 2
p.Ala1105= Multiple submitters multiple endocrine neoplasia type 2
p.Ala143= Multiple submitters hereditary neoplastic syndrome
p.Ala2= Multiple submitters hereditary neoplastic syndrome
p.Ala241= Multiple submitters hereditary neoplastic syndrome
p.Ala26= Multiple submitters hereditary neoplastic syndrome
p.Ala269= Multiple submitters multiple endocrine neoplasia type 2
p.Ala325= Multiple submitters hereditary neoplastic syndrome
p.Ala458= Multiple submitters multiple endocrine neoplasia type 2
p.Ala46= Multiple submitters hereditary neoplastic syndrome
p.Ala472= Multiple submitters hereditary neoplastic syndrome
p.Ala487= Multiple submitters multiple endocrine neoplasia type 2
p.Ala496= Multiple submitters hereditary neoplastic syndrome
p.Ala680= Multiple submitters hereditary neoplastic syndrome
p.Ala692= Multiple submitters hereditary neoplastic syndrome
p.Ala877= Multiple submitters multiple endocrine neoplasia type 2
p.Ala883= Multiple submitters hereditary neoplastic syndrome
p.Ala999= Multiple submitters hereditary neoplastic syndrome
p.Arg1089= Multiple submitters hereditary neoplastic syndrome
p.Arg114= Multiple submitters hereditary neoplastic syndrome
p.Arg189= Multiple submitters hereditary neoplastic syndrome
p.Arg226= Multiple submitters hereditary neoplastic syndrome
p.Arg287= Multiple submitters hereditary neoplastic syndrome
p.Arg297= Multiple submitters hereditary neoplastic syndrome
p.Arg368= Multiple submitters hereditary neoplastic syndrome
p.Arg415= Multiple submitters hereditary neoplastic syndrome
p.Arg475= Multiple submitters hereditary neoplastic syndrome
p.Arg544= Multiple submitters multiple endocrine neoplasia type 2
p.Arg678= Multiple submitters multiple endocrine neoplasia type 2
p.Arg77= Multiple submitters hereditary neoplastic syndrome
p.Arg79= Multiple submitters multiple endocrine neoplasia type 2
p.Arg878= Multiple submitters hereditary neoplastic syndrome
p.Arg99= Multiple submitters multiple endocrine neoplasia type 2
p.Arg995= Multiple submitters multiple endocrine neoplasia type 2
p.Asn1045= Multiple submitters hereditary neoplastic syndrome
p.Asn1068= Multiple submitters multiple endocrine neoplasia type 2
p.Asn1084= Multiple submitters multiple endocrine neoplasia type 2
p.Asn179= Multiple submitters hereditary neoplastic syndrome
p.Asn377= Multiple submitters multiple endocrine neoplasia type 2
p.Asn394= Multiple submitters multiple endocrine neoplasia type 2A
p.Asn437= Multiple submitters multiple endocrine neoplasia type 2
p.Asn468= Multiple submitters multiple endocrine neoplasia type 2
p.Asn579= Multiple submitters hereditary neoplastic syndrome
p.Asn702= Multiple submitters hereditary neoplastic syndrome
p.Asn723= Multiple submitters hereditary neoplastic syndrome
p.Asn83= Multiple submitters multiple endocrine neoplasia type 2
p.Asn84= Multiple submitters hereditary neoplastic syndrome
p.Asn950= Multiple submitters hereditary neoplastic syndrome
p.Asn962= Multiple submitters multiple endocrine neoplasia type 2
p.Asn98= Multiple submitters hereditary neoplastic syndrome
p.Asp1000= Multiple submitters multiple endocrine neoplasia type 2
p.Asp1017= Multiple submitters multiple endocrine neoplasia type 2
p.Asp1025= Multiple submitters hereditary neoplastic syndrome
p.Asp1066= Multiple submitters hereditary neoplastic syndrome
p.Asp1093= Multiple submitters hereditary neoplastic syndrome
p.Asp1113= Multiple submitters hereditary neoplastic syndrome
p.Asp219= Multiple submitters hereditary neoplastic syndrome
p.Asp266= Multiple submitters hereditary neoplastic syndrome
p.Asp34= Multiple submitters multiple endocrine neoplasia type 2
p.Asp460= Multiple submitters hereditary neoplastic syndrome
p.Asp469= Multiple submitters hereditary neoplastic syndrome
p.Asp489= Multiple submitters hereditary neoplastic syndrome
p.Asp571= Multiple submitters hereditary neoplastic syndrome
p.Asp577= Multiple submitters hereditary neoplastic syndrome
p.Asp58= Multiple submitters hereditary neoplastic syndrome
p.Asp874= Multiple submitters hereditary neoplastic syndrome
p.Asp91= Multiple submitters hereditary neoplastic syndrome
p.Asp974= Multiple submitters multiple endocrine neoplasia type 2
p.Cys157= Multiple submitters hereditary neoplastic syndrome
p.Cys197= Multiple submitters hereditary neoplastic syndrome
p.Cys216= Multiple submitters multiple endocrine neoplasia type 2
p.Cys243= Multiple submitters hereditary neoplastic syndrome
p.Cys449= Multiple submitters multiple endocrine neoplasia type 2
p.Cys565= Multiple submitters hereditary neoplastic syndrome
p.Cys570= Multiple submitters multiple endocrine neoplasia type 2
p.Cys585= Multiple submitters hereditary neoplastic syndrome
p.Cys794= Multiple submitters multiple endocrine neoplasia type 2
p.Cys976= Multiple submitters hereditary neoplastic syndrome
p.Gln138= Multiple submitters multiple endocrine neoplasia type 2
p.Gln187= Multiple submitters hereditary neoplastic syndrome
p.Gln233= Multiple submitters hereditary neoplastic syndrome
p.Gln490= Multiple submitters multiple endocrine neoplasia type 2
p.Gln583= Multiple submitters hereditary neoplastic syndrome
p.Gln986= Multiple submitters hereditary neoplastic syndrome
p.Glu136= Multiple submitters multiple endocrine neoplasia type 2
p.Glu169= Multiple submitters hereditary neoplastic syndrome
p.Glu222= Multiple submitters hereditary neoplastic syndrome
p.Glu235= Multiple submitters hereditary neoplastic syndrome
p.Glu238= Multiple submitters hereditary neoplastic syndrome
p.Glu265= Multiple submitters hereditary neoplastic syndrome
p.Glu284= Multiple submitters multiple endocrine neoplasia type 2
p.Glu38= Multiple submitters hereditary neoplastic syndrome
p.Glu428= Multiple submitters multiple endocrine neoplasia type 2
p.Glu505= Multiple submitters multiple endocrine neoplasia type 2
p.Glu512= Multiple submitters hereditary neoplastic syndrome
p.Glu542= Multiple submitters multiple endocrine neoplasia type 2
p.Glu615= Multiple submitters multiple endocrine neoplasia type 2
p.Glu62= Multiple submitters Hirschsprung disease, susceptibility to, 1
p.Glu621= Multiple submitters hereditary neoplastic syndrome
p.Glu673= Multiple submitters multiple endocrine neoplasia type 2
p.Glu713= Multiple submitters hereditary neoplastic syndrome
p.Glu768= Multiple submitters hereditary neoplastic syndrome
p.Glu775= Multiple submitters hereditary neoplastic syndrome
p.Glu805= Multiple submitters hereditary neoplastic syndrome
p.Glu958= Multiple submitters multiple endocrine neoplasia type 2
p.Glu971= Multiple submitters hereditary neoplastic syndrome
p.Glu978= Multiple submitters multiple endocrine neoplasia type 2
p.Gly10= Multiple submitters hereditary neoplastic syndrome
p.Gly1032= Multiple submitters hereditary neoplastic syndrome
p.Gly141= Multiple submitters hereditary neoplastic syndrome
p.Gly23= Multiple submitters multiple endocrine neoplasia type 2
p.Gly275= Multiple submitters Hirschsprung disease, susceptibility to, 1
p.Gly344= Multiple submitters multiple endocrine neoplasia type 2
p.Gly387= Multiple submitters multiple endocrine neoplasia type 2
p.Gly423= Multiple submitters multiple endocrine neoplasia type 2
p.Gly453= Multiple submitters hereditary neoplastic syndrome
p.Gly463= Multiple submitters hereditary neoplastic syndrome
p.Gly506= Multiple submitters hereditary neoplastic syndrome
p.Gly539= Multiple submitters multiple endocrine neoplasia type 2B
p.Gly597= Multiple submitters multiple endocrine neoplasia type 2
p.Gly731= Multiple submitters hereditary neoplastic syndrome
p.Gly751= Multiple submitters hereditary neoplastic syndrome
p.Gly93= Multiple submitters multiple endocrine neoplasia type 2B
p.Gly938= Multiple submitters hereditary neoplastic syndrome
p.Gly948= Multiple submitters hereditary neoplastic syndrome
p.Gly949= Multiple submitters multiple endocrine neoplasia type 2
p.Gly967= Multiple submitters multiple endocrine neoplasia type 2
p.His103= Multiple submitters hereditary neoplastic syndrome
p.His246= Multiple submitters multiple endocrine neoplasia type 2
p.His392= Multiple submitters hereditary neoplastic syndrome
p.His403= Multiple submitters hereditary neoplastic syndrome
p.His569= Multiple submitters hereditary neoplastic syndrome
p.Ile1001= Multiple submitters hereditary neoplastic syndrome
p.Ile364= Multiple submitters hereditary neoplastic syndrome
p.Ile422= Multiple submitters multiple endocrine neoplasia type 2
p.Ile436= Multiple submitters hereditary neoplastic syndrome
p.Ile657= Multiple submitters hereditary neoplastic syndrome
p.Ile944= Multiple submitters hereditary neoplastic syndrome
p.Leu1005= Multiple submitters multiple endocrine neoplasia type 2
p.Leu1027= Multiple submitters hereditary neoplastic syndrome
p.Leu1040= Multiple submitters hereditary neoplastic syndrome
p.Leu1048Phe Multiple submitters hereditary neoplastic syndrome
p.Leu1052= Multiple submitters multiple endocrine neoplasia type 2B
p.Leu119= Multiple submitters hereditary neoplastic syndrome
p.Leu13= Multiple submitters hereditary neoplastic syndrome
p.Leu132= Multiple submitters multiple endocrine neoplasia type 2
p.Leu14= Multiple submitters hereditary neoplastic syndrome
p.Leu15= Multiple submitters hereditary neoplastic syndrome
p.Leu16= Multiple submitters hereditary neoplastic syndrome
p.Leu160= Multiple submitters multiple endocrine neoplasia type 2
p.Leu196= Multiple submitters hereditary neoplastic syndrome
p.Leu206= Multiple submitters hereditary neoplastic syndrome
p.Leu207= Multiple submitters hereditary neoplastic syndrome
p.Leu21= Multiple submitters multiple endocrine neoplasia type 2
p.Leu212= Multiple submitters hereditary neoplastic syndrome
p.Leu229= Multiple submitters hereditary neoplastic syndrome
p.Leu27= Multiple submitters multiple endocrine neoplasia type 2A
p.Leu29= Multiple submitters multiple endocrine neoplasia type 2
p.Leu310= Multiple submitters hereditary neoplastic syndrome
p.Leu318= Multiple submitters hereditary neoplastic syndrome
p.Leu375= Multiple submitters hereditary neoplastic syndrome
p.Leu390= Multiple submitters hereditary neoplastic syndrome
p.Leu391= Multiple submitters multiple endocrine neoplasia type 2
p.Leu402= Multiple submitters hereditary neoplastic syndrome
p.Leu404= Multiple submitters hereditary neoplastic syndrome
p.Leu410= Multiple submitters multiple endocrine neoplasia type 2
p.Leu442= Multiple submitters multiple endocrine neoplasia type 2
p.Leu51= Multiple submitters multiple endocrine neoplasia type 2
p.Leu517= Multiple submitters multiple endocrine neoplasia type 2
p.Leu652= Multiple submitters multiple endocrine neoplasia type 2
p.Leu730= Multiple submitters multiple endocrine neoplasia type 2
p.Leu746= Multiple submitters hereditary neoplastic syndrome
p.Leu940= Multiple submitters hereditary neoplastic syndrome
p.Leu947= Multiple submitters hereditary neoplastic syndrome
p.Leu985= Multiple submitters hereditary neoplastic syndrome
p.Lys1011= Multiple submitters hereditary neoplastic syndrome
p.Lys1107= Multiple submitters hereditary neoplastic syndrome
p.Lys288= Multiple submitters hereditary neoplastic syndrome
p.Lys471= Multiple submitters hereditary neoplastic syndrome
p.Lys710= Multiple submitters hereditary neoplastic syndrome
p.Lys965= Multiple submitters hereditary neoplastic syndrome
p.Phe1112= Multiple submitters multiple endocrine neoplasia type 2
p.Phe154= Multiple submitters hereditary neoplastic syndrome
p.Phe174= Multiple submitters hereditary neoplastic syndrome
p.Phe185= Multiple submitters hereditary neoplastic syndrome
p.Phe188= Multiple submitters hereditary neoplastic syndrome
p.Phe214= Multiple submitters hereditary neoplastic syndrome
p.Phe272= Multiple submitters hereditary neoplastic syndrome
p.Phe555= Multiple submitters hereditary neoplastic syndrome
p.Phe644= Multiple submitters hereditary neoplastic syndrome
p.Phe776= Multiple submitters multiple endocrine neoplasia type 2
p.Phe998= Multiple submitters multiple endocrine neoplasia type 2

Uncertain significance 1988

Showing the top 300 by review status; the full set is in the sitemap.

c.1064-3C>T Multiple submitters multiple endocrine neoplasia type 2
c.1263+3G>A Multiple submitters multiple endocrine neoplasia type 2
c.1264-3del Multiple submitters hereditary neoplastic syndrome
c.1264-3T>C Multiple submitters multiple endocrine neoplasia type 2
c.1648+4A>C Multiple submitters hereditary neoplastic syndrome
c.1648+5G>A Multiple submitters pheochromocytoma
c.1760-3C>T Multiple submitters hereditary neoplastic syndrome
c.1879+3G>A Multiple submitters hereditary neoplastic syndrome
c.1880-3C>T Multiple submitters multiple endocrine neoplasia type 2
c.2284+3A>G Multiple submitters multiple endocrine neoplasia type 2
c.2284+4C>G Multiple submitters hereditary neoplastic syndrome
c.2284+4C>T Multiple submitters hereditary neoplastic syndrome
c.2607+3G>C Multiple submitters multiple endocrine neoplasia type 2
c.2607+5G>C Multiple submitters hereditary neoplastic syndrome
c.2608-3C>T Multiple submitters hereditary neoplastic syndrome
c.2730+4C>T Multiple submitters hereditary neoplastic syndrome
c.2801+3A>G Multiple submitters hereditary neoplastic syndrome
c.2802-3C>A Multiple submitters multiple endocrine neoplasia type 2
c.2939+3G>A Multiple submitters hereditary neoplastic syndrome
c.2939+3G>C Multiple submitters hereditary neoplastic syndrome
c.3027_3039+19dup Multiple submitters multiple endocrine neoplasia type 2
c.3187+1G>C Multiple submitters hereditary neoplastic syndrome
c.3187+3A>G Multiple submitters hereditary neoplastic syndrome
c.3188-3T>C Multiple submitters hereditary neoplastic syndrome
c.626-10T>G Multiple submitters
c.867+4C>G Multiple submitters multiple endocrine neoplasia
c.867+4del Multiple submitters hereditary neoplastic syndrome
c.-4G>T Multiple submitters multiple endocrine neoplasia type 2
c.*6C>G Multiple submitters multiple endocrine neoplasia type 2
p.Ala1019Val Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala1046Asp Multiple submitters familial medullary thyroid carcinoma ⚠
p.Ala1046Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1106Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1106Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala143Val Multiple submitters multiple endocrine neoplasia type 2A ⚠
p.Ala228Asp Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala228Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala228Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala247Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala247Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala249Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala249Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala26Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala26Thr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala26Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala274Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala279Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala281Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala2Glu Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala306Pro Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala306Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala349Glu Multiple submitters hereditary neoplastic syndrome
p.Ala349Gly Multiple submitters Hirschsprung disease, susceptibility to, 1 ⚠
p.Ala349Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala35Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala373Glu Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala416Val Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala420Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala420Thr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala420Val Multiple submitters multiple endocrine neoplasia type 2
p.Ala432Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala432Thr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala432Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala447Asp Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala45Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala45Val Multiple submitters multiple endocrine neoplasia type 2A ⚠
p.Ala487Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala496Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala496Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala498Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala510Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala55Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala604Val Multiple submitters RET-related disorder ⚠
p.Ala639Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala641Pro Multiple submitters familial medullary thyroid carcinoma ⚠
p.Ala641Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala654Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala664Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala664Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala680Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala680Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala682Val Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala692Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala692Glu Multiple submitters hereditary neoplastic syndrome
p.Ala741Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala750Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala756Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala793Val Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala807Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala807Thr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala807Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala845Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala845Val Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala866Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala877Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala883Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala883Pro Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Ala883Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala919Pro Multiple submitters multiple endocrine neoplasia type 2A ⚠
p.Ala999Gly Multiple submitters RET-related disorder ⚠
p.Ala999Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala999Val Multiple submitters multiple endocrine neoplasia type 2B ⚠
p.Arg1012Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1013del Multiple submitters hereditary neoplastic syndrome
p.Arg1050Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg1089Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1089Ile Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg112Leu Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg114Cys Multiple submitters multiple endocrine neoplasia type 2B ⚠
p.Arg12Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg133Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg133Pro Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg163Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg175Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg175His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg177_Glu178insIleArg Multiple submitters hereditary neoplastic syndrome
p.Arg177Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg177Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg189Cys Multiple submitters Hirschsprung disease, susceptibility to, 1 ⚠
p.Arg189Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg189Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg205Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg205Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg215His Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg226Leu Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg226Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg234Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg250Cys Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg297Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg297Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg313Gln Multiple submitters pheochromocytoma ⚠
p.Arg313Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg313Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg330Trp Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg348Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg348Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg355Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg355Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg368Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg417Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg417Pro Multiple submitters multiple endocrine neoplasia type 2
p.Arg418Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg418Pro Multiple submitters Hirschsprung disease, susceptibility to, 1 ⚠
p.Arg474Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg475Trp Multiple submitters multiple endocrine neoplasia type 2A ⚠
p.Arg494Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg524Lys Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg525Gly Multiple submitters multiple endocrine neoplasia type 2A ⚠
p.Arg57Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg587Trp Multiple submitters multiple endocrine neoplasia type 2B ⚠
p.Arg600Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg635His Multiple submitters Hirschsprung disease, susceptibility to, 1 ⚠
p.Arg635Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg677Trp Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg67Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg693Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg693His Multiple submitters multiple endocrine neoplasia type 2B ⚠
p.Arg721Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg749Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg770Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg77Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg813Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg813Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg813Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg817Cys Multiple submitters multiple endocrine neoplasia type 2A ⚠
p.Arg817His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg820Cys Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg820His Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg844Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg844Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg886Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg912Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg959Gln Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg959Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Arg959Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg972Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg982Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg99Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1044Lys Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn1044Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1059Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1059His Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn1059Ile Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn1059Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1059Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1068Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn151Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn151Ile Multiple submitters familial medullary thyroid carcinoma ⚠
p.Asn199Ser Multiple submitters Hirschsprung disease, susceptibility to, 1 ⚠
p.Asn336Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn343Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn359Ile Multiple submitters multiple endocrine neoplasia type 2
p.Asn359Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn377Asp Multiple submitters multiple endocrine neoplasia type 2
p.Asn377Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn394Lys Multiple submitters hereditary neoplastic syndrome
p.Asn437Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn437Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn468Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn554Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn554Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn579Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn610Ser Multiple submitters pheochromocytoma ⚠
p.Asn610Thr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn702Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn763Asp Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn763Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn763Ser Multiple submitters multiple endocrine neoplasia type 2B ⚠
p.Asn763Thr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn777Lys Multiple submitters hereditary neoplastic syndrome
p.Asn777Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn783Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn834Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn950His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn950Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asn975Tyr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp1000Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1000Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1014Asn Multiple submitters multiple endocrine neoplasia type 2
p.Asp1017Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1017Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1031Asn Multiple submitters multiple endocrine neoplasia type 2A ⚠
p.Asp1031del Multiple submitters multiple endocrine neoplasia type 2
p.Asp1042Asn Multiple submitters familial medullary thyroid carcinoma ⚠
p.Asp1042Glu Multiple submitters hereditary neoplastic syndrome
p.Asp1066Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1081Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1093Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp1113Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp219Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp264Glu Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp266Asn Multiple submitters multiple endocrine neoplasia type 2
p.Asp277Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp277Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp277Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp290Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp322Asn Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp34Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp34Tyr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp353Tyr Multiple submitters familial medullary thyroid carcinoma ⚠
p.Asp378Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp43Glu Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp460Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp469Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp469Glu Multiple submitters hereditary neoplastic syndrome
p.Asp469His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp469Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp547Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp577Glu Multiple submitters hereditary neoplastic syndrome
p.Asp577Val Multiple submitters multiple endocrine neoplasia type 2
p.Asp58Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp624Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp627Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp631Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp698Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp707Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp707His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp714Ala Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp839Asn Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Asp839His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp842Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp850Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp850Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp850Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp898Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp898Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp903Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp993Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1043Arg Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Cys1043Gly Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Cys1043Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys216Tyr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Cys426Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys426Ser Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Cys426Tyr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Cys430Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys430Tyr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Cys449Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys478Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys515Tyr Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Cys531Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys531Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys630_Asp631insProLeuCys Multiple submitters hereditary neoplastic syndrome
p.Cys87Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln138Arg Multiple submitters multiple endocrine neoplasia type 2B ⚠
p.Gln187Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln194Arg Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Gln194His Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Gln233Arg Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Gln233His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln233Leu Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Gln326Pro Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Gln327His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln327Pro Multiple submitters multiple endocrine neoplasia type 2B ⚠
p.Gln341Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln44His Multiple submitters hereditary neoplastic syndrome
p.Gln491Arg Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Gln495Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln545Lys Multiple submitters multiple endocrine neoplasia type 2 ⚠
p.Gln576Arg Multiple submitters multiple endocrine neoplasia type 2 ⚠